Associated Papers
Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14.
Misaki M et al.
The Journal of Dermatology, 2024
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Novel mutation (Asp158Val) in H1 domain of keratin 5 gene in a Japanese patient with Köbner-type epidermolysis bullosa simplex.
Saeki H et al.
The Journal of Dermatology, 2006
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
Premaratne C et al.
The Australasian Journal of Dermatology, 2002
Effect of mutation and phosphorylation of type I keratins on their caspase-mediated degradation.
Ku NO et al.
The Journal of Biological Chemistry, 2001
Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
Müller FB et al.
The Journal of Investigative Dermatology, 1998
Human keratin diseases: hereditary fragility of specific epithelial tissues.
Corden LD et al.
Experimental Dermatology, 1996
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